概述

  • 产品名称Anti-INPP5E抗体
    参阅全部 INPP5E 一抗
  • 描述
    小鼠多克隆抗体to INPP5E
  • 经测试应用适用于: WBmore details
  • 种属反应性
    与反应: Human
  • 免疫原

    Full length protein, (Human) INPP5E (NP_063945.2, 644 a.a).

  • 阳性对照
    • INPP5E transfected 293T cell lysate.

性能

应用

Our Abpromise guarantee covers the use of ab69696 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB 1/500 - 1/1000. Detects a band of approximately 70 kDa (predicted molecular weight: 70 kDa).

靶标

  • 功能Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2. Specific for lipid substrates, inactive towards water soluble inositol phosphates.
  • 组织特异性Detected in brain, heart, pancreas, testis and spleen.
  • 疾病相关Defects in INPP5E are the cause of Joubert syndrome type 1 (JBTS1) [MIM:213300]. A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
    Defects in INPP5E are the cause of mental retardation-truncal obesity-retinal dystrophy-micropenis (MORMS) [MIM:610156]. An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies.
  • 序列相似性Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Cytoplasm > cytoskeleton > cilium axoneme. Golgi apparatus > Golgi stack membrane. Peripheral membrane protein associated with Golgi stacks.
  • Information by UniProt
  • 数据库链接
  • 别名
    • 5-bisphosphate 5-phosphatase antibody
    • 72 kDa inositol polyphosphate 5-phosphatase antibody
    • Inositol polyphosphate 5 phosphatase antibody
    • INP5E_HUMAN antibody
    • Inpp5e antibody
    • Phosphatidylinositol (4,5) bisphosphate 5 phosphatase antibody
    • Phosphatidylinositol 4 antibody
    • Phosphatidylinositol polyphosphate 5 phosphatase type IV antibody
    • Phosphatidylinositol polyphosphate 5-phosphatase type IV antibody
    • PPI5PIV antibody
    see all

Anti-INPP5E antibody 图像

  • All lanes : Anti-INPP5E antibody (ab69696) at 1/500 dilution

    Lane 1 : INPP5E transfected 293T cell lysate
    Lane 2 : Non-transfected 293T cell lysate

    Lysates/proteins at 25 µg per lane.

    Secondary
    Goat Anti-Mouse IgG (H&L)-HRP Conjugate at 1/2500 dilution

    Predicted band size : 70 kDa
    Observed band size : 70 kDa

Anti-INPP5E antibody (ab69696)参考文献

ab69696 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab69696.
Please use the links above to contact us or submit feedback about this product.

Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"